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Single-mitosis dissection of acute and chronic DNA mutagenesis and repair Nat. Genet. (IF 30.8) Pub Date : 2024-04-16 Paul Adrian Ginno, Helena Borgers, Christina Ernst, Anja Schneider, Mikaela Behm, Sarah J. Aitken, Martin S. Taylor, Duncan T. Odom
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A spatiotemporal atlas of cholestatic injury and repair in mice Nat. Genet. (IF 30.8) Pub Date : 2024-04-16 Baihua Wu, Xinyi Shentu, Haitao Nan, Pengcheng Guo, Shijie Hao, Jiangshan Xu, Shuncheng Shangguan, Lei Cui, Jin Cen, Qiuting Deng, Yan Wu, Chang Liu, Yumo Song, Xiumei Lin, Zhifeng Wang, Yue Yuan, Wen Ma, Ronghai Li, Yikang Li, Qiwei Qian, Wensi Du, Tingting Lai, Tao Yang, Chuanyu Liu, Xiong Ma, Ao Chen, Xun Xu, Yiwei Lai, Longqi Liu, Miguel A. Esteban, Lijian Hui
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A spatiotemporal atlas of mouse liver homeostasis and regeneration Nat. Genet. (IF 30.8) Pub Date : 2024-04-16 Jiangshan Xu, Pengcheng Guo, Shijie Hao, Shuncheng Shangguan, Quan Shi, Giacomo Volpe, Keke Huang, Jing Zuo, Juan An, Yue Yuan, Mengnan Cheng, Qiuting Deng, Xiao Zhang, Guangyao Lai, Haitao Nan, Baihua Wu, Xinyi Shentu, Liang Wu, Xiaoyu Wei, Yujia Jiang, Xin Huang, Fengyu Pan, Yumo Song, Ronghai Li, Zhifeng Wang, Chuanyu Liu, Shiping Liu, Yuxiang Li, Tao Yang, Zhicheng Xu, Wensi Du, Ling Li, Tanveer
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Genetic associations of human metabolic traits Nat. Genet. (IF 30.8) Pub Date : 2024-04-15 Wei Li
Metabolomics has been integrated with genome-wide association studies and yielded insights into the genetic regulation of human metabolism. Using an updated NMR metabolomics platform, Karjalainen et al. conducted a genome-wide association meta-analysis of 233 metabolic traits in up to 136,016 participants from 33 cohorts, across multiple ancestry groups including non-Finnish European, Finnish, South
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Quantitative proteomics of protein–nucleosome interactions Nat. Genet. (IF 30.8) Pub Date : 2024-04-15 Michael Fletcher
One mechanism of gene regulation is the recognition of histone post-translational modifications (PTMs) by chromatin-binding proteins, which then recruit the core transcriptional machinery. Although the concept of a ‘histone code’ that corresponds to varying chromatin functional states is established, it remains unclear how combinations of these PTMs are recognized by chromatin binders, which often
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Role of gene–gene loops in fine-tuning cross-regulation Nat. Genet. (IF 30.8) Pub Date : 2024-04-15 Petra Gross
Prominent chromatin loops have been observed in both flies and vertebrates, and these often involve genes either with related functions or that are paralogs, pointing to a functional relevance for their co-regulation. Pollex et al. dissected the contribution of three loops formed between genes with related functions to the regulation of their own expression during Drosophila embryogenesis. They achieved
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Implementing polygenic risk scores in the clinic Nat. Genet. (IF 30.8) Pub Date : 2024-04-15 Kyle Vogan
Clinical use of polygenic risk scores (PRSs) can potentially improve health outcomes, but there are many open questions about how to implement PRSs effectively and equitably in primary care. To further these goals, Lennon et al. developed a pipeline within the Electronic Medical Records and Genomics (eMERGE) Network, consisting of diverse patients drawn from the US population, to perform polygenic
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The genome and population genomics of allopolyploid Coffea arabica reveal the diversification history of modern coffee cultivars Nat. Genet. (IF 30.8) Pub Date : 2024-04-15 Jarkko Salojärvi, Aditi Rambani, Zhe Yu, Romain Guyot, Susan Strickler, Maud Lepelley, Cui Wang, Sitaram Rajaraman, Pasi Rastas, Chunfang Zheng, Daniella Santos Muñoz, João Meidanis, Alexandre Rossi Paschoal, Yves Bawin, Trevor J. Krabbenhoft, Zhen Qin Wang, Steven J. Fleck, Rudy Aussel, Laurence Bellanger, Aline Charpagne, Coralie Fournier, Mohamed Kassam, Gregory Lefebvre, Sylviane Métairon, Déborah
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A pan-genome of 69 Arabidopsis thaliana accessions reveals a conserved genome structure throughout the global species range Nat. Genet. (IF 30.8) Pub Date : 2024-04-11 Qichao Lian, Bruno Huettel, Birgit Walkemeier, Baptiste Mayjonade, Céline Lopez-Roques, Lisa Gil, Fabrice Roux, Korbinian Schneeberger, Raphael Mercier
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Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles Nat. Genet. (IF 30.8) Pub Date : 2024-04-09 Saori Sakaue, Kathryn Weinand, Shakson Isaac, Kushal K. Dey, Karthik Jagadeesh, Masahiro Kanai, Gerald F. M. Watts, Zhu Zhu, Michael B. Brenner, Andrew McDavid, Laura T. Donlin, Kevin Wei, Alkes L. Price, Soumya Raychaudhuri
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Identifying regulatory loci across 38 lung cell types Nat. Genet. (IF 30.8) Pub Date : 2024-04-03
Using single-cell RNA-sequencing (scRNA-seq) of lung tissue, expression quantitative trait loci (eQTLs) were mapped across 38 cell types, revealing both shared and cell-type-specific effects. Highly cell-type-specific disease-interaction eQTLs were linked to cellular dysregulation in lung disease and lung disease risk variants were connected to their regulatory targets in relevant cell types.
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Proteogenomic insights into early-onset endometrioid endometrial carcinoma: predictors for fertility-sparing therapy response Nat. Genet. (IF 30.8) Pub Date : 2024-04-02 Zhe Hu, Zimeng Wu, Wei Liu, Yan Ning, Jingbo Liu, Wencheng Ding, Junpeng Fan, Shuyan Cai, Qinlan Li, Wenting Li, Xiaohang Yang, Yingyu Dou, Wei Wang, Wenju Peng, Funian Lu, Xucui Zhuang, Tianyu Qin, Xiaoyan Kang, Chenzhao Feng, Zhiying Xu, Qiaoying Lv, Qian Wang, Chao Wang, Xinyu Wang, Zhiqi Wang, Jianliu Wang, Jie Jiang, Beibei Wang, Gordon B. Mills, Ding Ma, Qinglei Gao, Kezhen Li, Gang Chen, Xiaojun
Endometrial carcinoma remains a public health concern with a growing incidence, particularly in younger women. Preserving fertility is a crucial consideration in the management of early-onset endometrioid endometrial carcinoma (EEEC), particularly in patients under 40 who maintain both reproductive desire and capacity. To illuminate the molecular characteristics of EEEC, we undertook a large-scale
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Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease Nat. Genet. (IF 30.8) Pub Date : 2024-04-04 Yajie Zhao, Maria Chukanova, Katherine A. Kentistou, Zammy Fairhurst-Hunter, Anna Maria Siegert, Raina Y. Jia, Georgina K. C. Dowsett, Eugene J. Gardner, Katherine Lawler, Felix R. Day, Lena R. Kaisinger, Yi-Chun Loraine Tung, Brian Yee Hong Lam, Hsiao-Jou Cortina Chen, Quanli Wang, Jaime Berumen-Campos, Pablo Kuri-Morales, Roberto Tapia-Conyer, Jesus Alegre-Diaz, Inês Barroso, Jonathan Emberson, Jason
Obesity is a major risk factor for many common diseases and has a substantial heritable component. To identify new genetic determinants, we performed exome-sequence analyses for adult body mass index (BMI) in up to 587,027 individuals. We identified rare loss-of-function variants in two genes (BSN and APBA1) with effects substantially larger than those of well-established obesity genes such as MC4R
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Mapping single-cell gene expression in the healthy human breast Nat. Genet. (IF 30.8) Pub Date : 2024-03-29
We have curated a comprehensive single-cell reference map of the human breast. Our data explore how age, parity and germline mutations might influence cellular dynamics, revealing unexpected signs of immune exhaustion in healthy tissues from carriers of BRCA1 or BRCA2 germline mutations.
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy Nat. Genet. (IF 30.8) Pub Date : 2024-03-29 Darcy L. Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Edward J. Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S. Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L. Pereira, Jill de Rijke, Wilson W. L. Sung, Alireza Mowjoodi, Jennifer L. Howe, Thomas Nalpathamkalam
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Protein-altering variants at copy number-variable regions influence diverse human phenotypes Nat. Genet. (IF 30.8) Pub Date : 2024-03-28 Margaux L. A. Hujoel, Robert E. Handsaker, Maxwell A. Sherman, Nolan Kamitaki, Alison R. Barton, Ronen E. Mukamel, Chikashi Terao, Steven A. McCarroll, Po-Ru Loh
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Cell-type-specific and disease-associated expression quantitative trait loci in the human lung Nat. Genet. (IF 30.8) Pub Date : 2024-03-28 Heini M. Natri, Christina B. Del Azodi, Lance Peter, Chase J. Taylor, Sagrika Chugh, Robert Kendle, Mei-i Chung, David K. Flaherty, Brittany K. Matlock, Carla L. Calvi, Timothy S. Blackwell, Lorraine B. Ware, Matthew Bacchetta, Rajat Walia, Ciara M. Shaver, Jonathan A. Kropski, Davis J. McCarthy, Nicholas E. Banovich
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A single-cell atlas enables mapping of homeostatic cellular shifts in the adult human breast Nat. Genet. (IF 30.8) Pub Date : 2024-03-28 Austin D. Reed, Sara Pensa, Adi Steif, Jack Stenning, Daniel J. Kunz, Linsey J. Porter, Kui Hua, Peng He, Alecia-Jane Twigger, Abigail J. Q. Siu, Katarzyna Kania, Rachel Barrow-McGee, Iain Goulding, Jennifer J. Gomm, Valerie Speirs, J Louise Jones, John C. Marioni, Walid T. Khaled
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Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation Nat. Genet. (IF 30.8) Pub Date : 2024-03-25 Daniel M. Ibrahim
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Single-cell multi-ome regression models identify functional and disease-associated enhancers and enable chromatin potential analysis Nat. Genet. (IF 30.8) Pub Date : 2024-03-21 Sneha Mitra, Rohan Malik, Wilfred Wong, Afsana Rahman, Alexander J. Hartemink, Yuri Pritykin, Kushal K. Dey, Christina S. Leslie
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Cell subtype-specific effects of genetic variation in the Alzheimer’s disease brain Nat. Genet. (IF 30.8) Pub Date : 2024-03-21 Masashi Fujita, Zongmei Gao, Lu Zeng, Cristin McCabe, Charles C. White, Bernard Ng, Gilad Sahar Green, Orit Rozenblatt-Rosen, Devan Phillips, Liat Amir-Zilberstein, Hyo Lee, Richard V. Pearse, Atlas Khan, Badri N. Vardarajan, Krzysztof Kiryluk, Chun Jimmie Ye, Hans-Ulrich Klein, Gao Wang, Aviv Regev, Naomi Habib, Julie A. Schneider, Yanling Wang, Tracy Young-Pearse, Sara Mostafavi, David A. Bennett
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Increased enhancer–promoter interactions during developmental enhancer activation in mammals Nat. Genet. (IF 30.8) Pub Date : 2024-03-20 Zhuoxin Chen, Valentina Snetkova, Grace Bower, Sandra Jacinto, Benjamin Clock, Atrin Dizehchi, Iros Barozzi, Brandon J. Mannion, Ana Alcaina-Caro, Javier Lopez-Rios, Diane E. Dickel, Axel Visel, Len A. Pennacchio, Evgeny Z. Kvon
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The homeobox transcription factor DUXBL controls exit from totipotency Nat. Genet. (IF 30.8) Pub Date : 2024-03-20 Maria Vega-Sendino, Felipe F. Lüttmann, Teresa Olbrich, Yanpu Chen, Carsten Kuenne, Paula Stein, Desiree Tillo, Grace I. Carey, Jiasheng Zhong, Virginia Savy, Lenka Radonova, Tianlin Lu, Bechara Saykali, Kee-Pyo Kim, Catherine N. Domingo, Leah Schüler, Stefan Günther, Mette Bentsen, Darko Bosnakovski, Hans Schöler, Michael Kyba, Tapan K. Maity, Lisa M. Jenkins, Mario Looso, Carmen J. Williams, Johnny
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Genome assemblies of 11 bamboo species highlight diversification induced by dynamic subgenome dominance Nat. Genet. (IF 30.8) Pub Date : 2024-03-15 Peng-Fei Ma, Yun-Long Liu, Cen Guo, Guihua Jin, Zhen-Hua Guo, Ling Mao, Yi-Zhou Yang, Liang-Zhong Niu, Yu-Jiao Wang, Lynn G. Clark, Elizabeth A. Kellogg, Zu-Chang Xu, Xia-Ying Ye, Jing-Xia Liu, Meng-Yuan Zhou, Yan Luo, Yang Yang, Douglas E. Soltis, Jeffrey L. Bennetzen, Pamela S. Soltis, De-Zhu Li
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MYC activates transcriptional enhancers to drive cancer progression Nat. Genet. (IF 30.8) Pub Date : 2024-03-13
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Genetic contribution to heterogeneity in type 2 diabetes Nat. Genet. (IF 30.8) Pub Date : 2024-03-13 Wei Li
Genome-wide association studies of type 2 diabetes (T2D) have led to the identification of hundreds of risk loci. Through the Type 2 Diabetes Global Genomics Initiative, Suzuki et al. performed a multi-ancestry meta-analysis of T2D in 2,535,601 individuals (428,452 cases of T2D) from diverse ancestry groups: European (60.3%), East Asian (19.8%), admixed African American (10.5%), admixed Hispanic (5
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How transposable elements are spliced out Nat. Genet. (IF 30.8) Pub Date : 2024-03-13 Chiara Anania
A large part of the human genome consists of transposable elements (TEs). Most TEs do not contribute to mature transcripts, which suggests that cells might have evolved a strategy to skip TE sequences by splicing them as introns. In a study published in Nature, Ilık et al. studied 33 RNA-binding proteins involved in splicing, and found that SAFB, hnRNPC and DHX9 associated with sense LINE1 elements
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Implicating XIST in sex-biased autoimmunity Nat. Genet. (IF 30.8) Pub Date : 2024-03-13 Kyle Vogan
Autoimmune diseases exhibit a strong female sex bias in incidence, but the mechanistic basis for this differential susceptibility is poorly understood. Given previous evidence that X chromosome dosage, and specifically the long non-coding RNA XIST produced from the inactive X chromosome and its associated proteins, could be key factors underlying the increased autoimmune disease risk in females and
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Transcription factor binding site affinity and the link to phenotype Nat. Genet. (IF 30.8) Pub Date : 2024-03-13 Michael Fletcher
Genetic variation, such as single-nucleotide variants (SNVs), can alter transcription factor binding and thus phenotypes. However, the exact mechanistic bases of this process remain poorly understood. Lim et al. examine the classic model enhancer, ZRS, which regulates expression of SHH during limb development and contains SNVs that are causal for polydactyly. Using protein-binding microarray data,
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Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications Nat. Genet. (IF 30.8) Pub Date : 2024-03-13 W. Gregory Feero, Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin, Bruce R. Korf, Annette Flanagin, Kirsten Bibbins-Domingo
In March 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) released a consensus study report titled Using Population Descriptors in Genetics and Genomics Research1. Sponsored by the US National Institutes of Health, the report is more than a discussion of the use of terminology; the authors of the NASEM report suggest a tectonic shift away from current models that use race
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Enhancer–promoter interactions become more instructive in the transition from cell-fate specification to tissue differentiation Nat. Genet. (IF 30.8) Pub Date : 2024-03-11 Tim Pollex, Adam Rabinowitz, Maria Cristina Gambetta, Raquel Marco-Ferreres, Rebecca R. Viales, Aleksander Jankowski, Christoph Schaub, Eileen E. M. Furlong
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MYC activity at enhancers drives prognostic transcriptional programs through an epigenetic switch Nat. Genet. (IF 30.8) Pub Date : 2024-03-07 Simon T. Jakobsen, Rikke A. M. Jensen, Maria S. Madsen, Tina Ravnsborg, Christian S. Vaagenso, Majken S. Siersbæk, Hjorleifur Einarsson, Robin Andersson, Ole N. Jensen, Rasmus Siersbæk
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Improved identification of cancer mutational processes Nat. Genet. (IF 30.8) Pub Date : 2024-03-07 Tom L. Kaufmann, Roland F. Schwarz
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Nat. Genet. (IF 30.8) Pub Date : 2024-03-01 Ana Töpf, Dan Cox, Irina T. Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard J. White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina
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Epigenetic variation impacts individual differences in the transcriptional response to influenza infection Nat. Genet. (IF 30.8) Pub Date : 2024-02-29 Katherine A. Aracena, Yen-Lung Lin, Kaixuan Luo, Alain Pacis, Saideep Gona, Zepeng Mu, Vania Yotova, Renata Sindeaux, Albena Pramatarova, Marie-Michelle Simon, Xun Chen, Cristian Groza, David Lougheed, Romain Gregoire, David Brownlee, Carly Boye, Roger Pique-Regi, Yang Li, Xin He, David Bujold, Tomi Pastinen, Guillaume Bourque, Luis B. Barreiro
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A combinatorial genetic strategy for exploring complex genotype–phenotype associations in cancer Nat. Genet. (IF 30.8) Pub Date : 2024-02-29 Shan Li, Alicia Wong, Huiyun Sun, Vipul Bhatia, Gerardo Javier, Sujata Jana, Qian Wu, Robert B. Montgomery, Jonathan L. Wright, Hung-Ming Lam, Andrew C. Hsieh, Bishoy M. Faltas, Michael C. Haffner, John K. Lee
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Cellular neighborhood analysis in spatial omics reveals new tissue domains and cell subtypes Nat. Genet. (IF 30.8) Pub Date : 2024-02-27 Marc J. Ruitenberg, Quan H. Nguyen
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New insights into the genetics of diabetes in pregnancy Nat. Genet. (IF 30.8) Pub Date : 2024-02-27 Aminata Hallimat Cissé, Rachel M. Freathy
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BANKSY unifies cell typing and tissue domain segmentation for scalable spatial omics data analysis Nat. Genet. (IF 30.8) Pub Date : 2024-02-27 Vipul Singhal, Nigel Chou, Joseph Lee, Yifei Yue, Jinyue Liu, Wan Kee Chock, Li Lin, Yun-Ching Chang, Erica Mei Ling Teo, Jonathan Aow, Hwee Kuan Lee, Kok Hao Chen, Shyam Prabhakar
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Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns Nat. Genet. (IF 30.8) Pub Date : 2024-02-22 Emma V. Watson, Jake June-Koo Lee, Doga C. Gulhan, Giorgio E. M. Melloni, Sergey V. Venev, Rayna Y. Magesh, Abdulrazak Frederick, Kunitoshi Chiba, Eric C. Wooten, Kamila Naxerova, Job Dekker, Peter J. Park, Stephen J. Elledge
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Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease Nat. Genet. (IF 30.8) Pub Date : 2024-02-20 Feng Xiao, Xiaoran Zhang, Sarah U. Morton, Seong Won Kim, Youfei Fan, Joshua M. Gorham, Huan Zhang, Paul J. Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D. Gelb, Jonathan G. Seidman, Christine E. Seidman, William T. Pu
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A genomic variation map provides insights into peanut diversity in China and associations with 28 agronomic traits Nat. Genet. (IF 30.8) Pub Date : 2024-02-20 Qing Lu, Lu Huang, Hao Liu, Vanika Garg, Sunil S. Gangurde, Haifen Li, Annapurna Chitikineni, Dandan Guo, Manish K. Pandey, Shaoxiong Li, Haiyan Liu, Runfeng Wang, Quanqing Deng, Puxuan Du, Rajeev K. Varshney, Xuanqiang Liang, Yanbin Hong, Xiaoping Chen
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Structural variations fine-tune gene expression to steer Brassica oleracea diversification Nat. Genet. (IF 30.8) Pub Date : 2024-02-19
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Polycomb repression of Hox genes involves spatial feedback but not domain compaction or phase transition Nat. Genet. (IF 30.8) Pub Date : 2024-02-15 Sedona Eve Murphy, Alistair Nicol Boettiger
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Genome-wide ATAC-see screening identifies TFDP1 as a modulator of global chromatin accessibility Nat. Genet. (IF 30.8) Pub Date : 2024-02-15 Satoko Ishii, Taishi Kakizuka, Sung-Joon Park, Ayako Tagawa, Chiaki Sanbo, Hideyuki Tanabe, Yasuyuki Ohkawa, Mahito Nakanishi, Kenta Nakai, Yusuke Miyanari
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Accurate and sensitive mutational signature analysis with MuSiCal Nat. Genet. (IF 30.8) Pub Date : 2024-02-15 Hu Jin, Doga C. Gulhan, Benedikt Geiger, Daniel Ben-Isvy, David Geng, Viktor Ljungström, Peter J. Park
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Multi-omic profiling of clear cell renal cell carcinoma identifies metabolic reprogramming associated with disease progression Nat. Genet. (IF 30.8) Pub Date : 2024-02-15 Junyi Hu, Shao-Gang Wang, Yaxin Hou, Zhaohui Chen, Lilong Liu, Ruizhi Li, Nisha Li, Lijie Zhou, Yu Yang, Liping Wang, Liang Wang, Xiong Yang, Yichen Lei, Changqi Deng, Yang Li, Zhiyao Deng, Yuhong Ding, Yingchun Kuang, Zhipeng Yao, Yang Xun, Fan Li, Heng Li, Jia Hu, Zheng Liu, Tao Wang, Yi Hao, Xuanmao Jiao, Wei Guan, Zhen Tao, Shancheng Ren, Ke Chen
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Linking host genetics to gut microbial variation Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Wei Li
Symbiotic relationships between hosts and microorganisms remain to be fully understood from a genetic perspective. Zhernakova et al. carried out a genome-wide association meta-analysis of human genetic variation and gut microbial structural variation in 9,015 individuals from four Dutch cohorts: the Dutch Microbiome Project, Lifelines-DEEP, the 500 Functional Genomics Project and 300-Obesity. The study
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Establishment of DNA replication timing during mammalian development Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Chiara Anania
The mammalian genome is organized into early- or late-replicating regions. When and how replication timing emerges during mammalian development is poorly understood. To address this, Nakatani et al. use single-cell Repli-seq to generate a replicating time map in pre-implantation mouse embryos. The authors show that zygotes and 2-cell embryos have not fully established replication domains, whereas from
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The genetic origins of multiple sclerosis Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Safia Danovi
The study of ancient DNA is demonstrating how genetic ancestry can sculpt disease risk. Barrie et al. investigated the genetic provenance of multiple sclerosis (MS); a neurodegenerative auto-immune disease with complex genetic architecture. The disease is most prevalent in individuals of northern European ancestry but the reasons for this are unknown. Analysis of datasets from ancestral and modern-day
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Rare CTR9 variants and myeloid malignancies Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Kyle Vogan
Large-scale population-based exome sequencing studies are providing insights into the contribution of rare protein-coding variants to disease risk. Leveraging whole-exome sequencing data from the UK Biobank, Zhou et al. performed gene-based collapsing burden analyses to identify rare variants that contribute to inherited risk of myeloid malignancies. Among the genes harboring a significant enrichment
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Building chromatin from the ground up Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Theodore Busby, Tom Misteli
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Pathway level subtyping identifies a slow-cycling biological phenotype associated with poor clinical outcomes in colorectal cancer Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Sudhir B. Malla, Ryan M. Byrne, Maxime W. Lafarge, Shania M. Corry, Natalie C. Fisher, Petros K. Tsantoulis, Megan L. Mills, Rachel A. Ridgway, Tamsin R. M. Lannagan, Arafath K. Najumudeen, Kathryn L. Gilroy, Raheleh Amirkhah, Sarah L. Maguire, Eoghan J. Mulholland, Hayley L. Belnoue-Davis, Elena Grassi, Marco Viviani, Emily Rogan, Keara L. Redmond, Svetlana Sakhnevych, Aoife J. McCooey, Courtney Bull
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Large-scale gene expression alterations introduced by structural variation drive morphotype diversification in Brassica oleracea Nat. Genet. (IF 30.8) Pub Date : 2024-02-13 Xing Li, Yong Wang, Chengcheng Cai, Jialei Ji, Fengqing Han, Lei Zhang, Shumin Chen, Lingkui Zhang, Yinqing Yang, Qi Tang, Johan Bucher, Xuelin Wang, Limei Yang, Mu Zhuang, Kang Zhang, Honghao Lv, Guusje Bonnema, Yangyong Zhang, Feng Cheng
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Near-gapless and haplotype-resolved apple genomes provide insights into the genetic basis of rootstock-induced dwarfing Nat. Genet. (IF 30.8) Pub Date : 2024-02-12 Wei Li, Chong Chu, Hui Li, Hengtao Zhang, Haochen Sun, Shiyao Wang, Zijun Wang, Yuqi Li, Toshi M. Foster, Elena López-Girona, Jiaxin Yu, Yi Li, Yue Ma, Ke Zhang, Yongming Han, Bowen Zhou, Xingqiang Fan, Yao Xiong, Cecilia H. Deng, Yi Wang, Xuefeng Xu, Zhenhai Han
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Genetic analysis of cardiac dynamic flow volumes identifies loci mapping aortic root size Nat. Genet. (IF 30.8) Pub Date : 2024-02-08 Patricia B. Munroe, Nay Aung, Julia Ramírez
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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples Nat. Genet. (IF 30.8) Pub Date : 2024-02-08 Gareth Baynam, Daria Julkowska, Sarah Bowdin, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Nadine Caron, Meck Chongo, Yarlalu Thomas, Mary Catherine
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Connecting clinical and genetic heterogeneity in ADHD Nat. Genet. (IF 30.8) Pub Date : 2024-02-06 Chloe X. Yap, Jacob Gratten